Velo-cardio-facial Syndrome
Synonyms
VCFS; DiGeorge syndrome; 22q11 deletion syndrome; Shprintzen syndrome; Conotruncal anomaly face syndrome
Definition and Characteristics
VCFS is associated with a wide spectrum of malformations, including 180 clinical findings. The common defects include dysmorphic facies, palate abnormalities, malformed outer ears, chronic otitis media with associated conductive hearing loss, cardiac defects, hypocalcemic hypoparathyroidism, and T-cell mediated immune deficiency. Other features include learning and speech disabilities, as well as a high incidence of psychiatric illness.
Prevalence
The prevalence of the disorder has been estimated at 1 per 4,000 live births.
Genes
About 90% of VCFS patients have a typical 3 Mb deletion on chromosome 22q11, which includes 40 genes. Approximately 8% of the patients have a nested distal deletion endpoint resulting in a 1.5 Mb deletion. There is no difference in the severity in patients with the 1.5 or 3 Mb deletion, suggesting the critical region...
References
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